High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.

abstract：:Melanoma is the deadliest form of skin cancer; a primary driver of this high level of morbidity is the propensity of melanoma cells to metastasize. When malignant tumours develop distant metastatic lesions the new local tissue niche is known to impact on the biology of the cancer cells. However, little is known about ...

journal_title：Pigment cell & melanoma research

authors： Ferguson J,Wilcock DJ,McEntegart S,Badrock AP,Levesque M,Dummer R,Wellbrock C,Smith MP

更新日期：2020-01-01 00:00:00

abstract：:RS-4-(4-Hydroxyphenyl)-2-butanol (rhododendrol, RD) was reported to induce leukoderma of the skin. To explore the mechanism underlying that effect, we previously showed that oxidation of RD with mushroom tyrosinase produces RD-quinone, which is converted to secondary quinone products, and we suggested that those quino...

journal_title：Pigment cell & melanoma research

authors： Ito S,Okura M,Nakanishi Y,Ojika M,Wakamatsu K,Yamashita T

更新日期：2015-05-01 00:00:00

abstract：:Oncogenic BRAF and NRAS mutations drive human melanoma initiation. We used transgenic zebrafish to model NRAS-mutant melanoma, and the rapid tumor onset allowed us to study candidate tumor suppressors. We identified P38α-MAPK14 as a potential tumor suppressor in The Cancer Genome Atlas melanoma cohort of NRAS-mutant m...

journal_title：Pigment cell & melanoma research

authors： Banik I,Cheng PF,Dooley CM,Travnickova J,Merteroglu M,Dummer R,Patton EE,Busch-Nentwich EM,Levesque MP

更新日期：2020-09-10 00:00:00

abstract：:In response to the dynamic intra-tumor microenvironment, melanoma cells adopt distinct phenotypic states associated with differential expression of the microphthalmia-associated transcription factor (MITF). The response to hypoxia is driven by hypoxia-inducible transcription factors (HIFs) that reprogram metabolism an...

journal_title：Pigment cell & melanoma research

authors： Louphrasitthiphol P,Ledaki I,Chauhan J,Falletta P,Siddaway R,Buffa FM,Mole DR,Soga T,Goding CR

更新日期：2019-11-01 00:00:00

abstract：:Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disorder caused by mutations in the tyrosinase gene. Two subtypes of OCA1 have been described: severe OCA1A with complete absence of tyrosinase activity and less severe OCA1B with residual tyrosinase activity. Here, we characterize the recombinant human t...

journal_title：Pigment cell & melanoma research

authors： Dolinska MB,Kus NJ,Farney SK,Wingfield PT,Brooks BP,Sergeev YV

更新日期：2017-01-01 00:00:00

abstract：:Ultraviolet radiation (UVR) can play two roles: induce cellular senescence and convert skin melanocytes into melanoma. To assess whether this conversion might rely on melanocytes having to first acquire a senescent phenotype, we studied the effects of physiological doses of UVR (UVA + UVB) on quiescent melanocytes in ...

journal_title：Pigment cell & melanoma research

authors： Sha J,Arbesman J,Harter ML

更新日期：2020-09-01 00:00:00

abstract：:The protease-activated receptor-2 (PAR-2) is a seven transmembrane G-protein-coupled receptor that could be activated by serine protease cleavage or by synthetic peptide agonists. We showed earlier that activation of PAR-2 with Ser-Leu-Ile-Gly-Arg-Leu-NH(2) (SLIGRL), a known PAR-2 activating peptide, induces keratinoc...

journal_title：Pigment cell & melanoma research

authors： Lin CB,Chen N,Scarpa R,Guan F,Babiarz-Magee L,Liebel F,Li WH,Kizoulis M,Shapiro S,Seiberg M

更新日期：2008-04-01 00:00:00

abstract：:Two biological processes regulate light-induced skin colour change. A fast 'physiological pigmentation change' (i.e. circadian variations or camouflage) involves alterations in the distribution of pigment containing granules in the cytoplasm of chromatophores, while a slower 'morphological pigmentation change' (i.e. s...

journal_title：Pigment cell & melanoma research

authors： Bertolesi GE,Hehr CL,Munn H,McFarlane S

更新日期：2016-11-01 00:00:00

abstract：:Transcription factors initiate programs of gene expression and are catalysts in downstream molecular cascades that modulate a variety of cellular processes. Pax3 is a transcription factor that is important in the melanocyte and influences melanocytic proliferation, resistance to apoptosis, migration, lineage specifici...

journal_title：Pigment cell & melanoma research

authors： Kubic JD,Young KP,Plummer RS,Ludvik AE,Lang D

更新日期：2008-12-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have become a widely used approach for genetic association studies of various human traits. A few GWAS have been conducted with the goal of identifying novel loci for pigmentation traits, melanoma, and non-melanoma skin cancer. Nevertheless, the phenotype variation explained by t...

journal_title：Pigment cell & melanoma research

authors： Meng S,Zhang M,Liang L,Han J

更新日期：2012-09-01 00:00:00

abstract：:BRAF inhibitors improve melanoma patient survival, but resistance invariably develops. Here we report the discovery of a novel BRAF mutation that confers resistance to PLX4032 employing whole-exome sequencing of drug-resistant BRAF(V600K) melanoma cells. We further describe a new screening approach, a genome-wide pigg...

journal_title：Pigment cell & melanoma research

authors： Choi J,Landrette SF,Wang T,Evans P,Bacchiocchi A,Bjornson R,Cheng E,Stiegler AL,Gathiaka S,Acevedo O,Boggon TJ,Krauthammer M,Halaban R,Xu T

更新日期：2014-03-01 00:00:00

abstract：:Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis caused by mutations in ADAR1. In this study, we performed mutation analysis on a family that included typical DSH patients. No mutations were found in any coding regions or exon-intron boundary regions of ADAR1, but a previously unreported non-...

journal_title：Pigment cell & melanoma research

authors： Suganuma M,Kono M,Yamanaka M,Akiyama M

更新日期：2020-07-01 00:00:00

abstract：:We have previously shown that Wnt5A-mediated signaling can promote melanoma metastasis. It has been shown that Wnt signaling is antagonized by the protein Klotho, which has been implicated in aging. We show here that in melanoma cells, expressions of Wnt5A and Klotho are inversely correlated. In the presence of recomb...

journal_title：Pigment cell & melanoma research

authors： Camilli TC,Xu M,O'Connell MP,Chien B,Frank BP,Subaran S,Indig FE,Morin PJ,Hewitt SM,Weeraratna AT

更新日期：2011-02-01 00:00:00

abstract：:There are many techniques for evaluating melanosome transfer to keratinocytes but the spectrophotometric quantification of melanosomes incorporated by keratinocyte phagocytosis has not been previously reported. Here we describe a new method that allows the spectrophotometric visualization of melanosome uptake by norma...

journal_title：Pigment cell & melanoma research

authors： Ando H,Niki Y,Yoshida M,Ito M,Akiyama K,Kim JH,Yoon TJ,Lee JH,Matsui MS,Ichihashi M

更新日期：2010-02-01 00:00:00

abstract：:Mice lacking the E3 ubiquitin ligase mahogunin ring finger-1 (MGRN1) have a pleiotropic phenotype that includes spongiform neurodegeneration, embryonic patterning defects, and dark fur due to a defect in pigment-type switching. The only MGRN1 ubiquitination target identified to date is tumor susceptibility gene 101 (T...

journal_title：Pigment cell & melanoma research

authors： Gunn TM,Silvius D,Bagher P,Sun K,Walker KK

更新日期：2013-03-01 00:00:00

abstract：:From the onset of melanocyte specification from the neural crest, throughout their migration during embryogenesis and until they reside in their niche in the basal keratinocyte layer, melanocytes interact in dynamic ways with the extracellular environment of the growing embryo. To recognize and to adhere to their envi...

journal_title：Pigment cell & melanoma research

authors： Pinon P,Wehrle-Haller B

更新日期：2011-04-01 00:00:00

abstract：:Defining markers of different phenotypic states in melanoma is important for understanding disease progression, determining the response to therapy, and defining the molecular mechanisms underpinning phenotype-switching driven by the changing intratumor microenvironment. The ABCB5 transporter is implicated in drug-res...

journal_title：Pigment cell & melanoma research

authors： Louphrasitthiphol P,Chauhan J,Goding CR

更新日期：2020-01-01 00:00:00

abstract：:In February 2018, the Melanoma Research Foundation and the Moffitt Cancer Center hosted the Second Summit on Melanoma Central Nervous System Metastases in Tampa, Florida. The meeting included investigators from multiple academic centers and disciplines. A consensus summary of the progress and challenges in melanoma pa...

journal_title：Pigment cell & melanoma research

authors： Glitza IC,Smalley KSM,Brastianos PK,Davies MA,McCutcheon I,Liu JKC,Ahmed KA,Arrington JA,Evernden BR,Smalley I,Eroglu Z,Khushalani N,Margolin K,Kluger H,Atkins MB,Tawbi H,Boire A,Forsyth P

更新日期：2020-07-01 00:00:00

abstract：:The Wnt/beta-catenin signaling pathway is involved in the melanocyte differentiation and melanoma development. However, the effect of beta-catenin for dendrite formation has not been clearly elucidated yet in normal human epidermal melanocytes (NHEM). To investigate the effect of beta-catenin, we transduced NHEM with ...

journal_title：Pigment cell & melanoma research

authors： Kim JH,Sohn KC,Choi TY,Kim MY,Ando H,Choi SJ,Kim S,Lee YH,Lee JH,Kim CD,Yoon TJ

更新日期：2010-06-01 00:00:00

abstract：:Evidence on the relationship between the vitamin D pathway and outcomes in melanoma is growing, although it is not always clear. We investigated the impact of measured levels of sun exposure at diagnosis on associations of vitamin D receptor gene (VDR) polymorphisms and melanoma death in 3336 incident primary melanoma...

journal_title：Pigment cell & melanoma research

authors： Orlow I,Shi Y,Kanetsky PA,Thomas NE,Luo L,Corrales-Guerrero S,Cust AE,Sacchetto L,Zanetti R,Rosso S,Armstrong BK,Dwyer T,Venn A,Gallagher RP,Gruber SB,Marrett LD,Anton-Culver H,Busam K,Begg CB,Berwick M,GEM Study

更新日期：2018-03-01 00:00:00

abstract：:Some familial forms of the dermatological condition vitiligo have recently been linked to polymorphisms in the innate immunity gene, NLRP1. Here, we review what is currently known about the mechanisms that regulate activation of the NLRP1 protein and the downstream effects of NLRP1 on pathways impacting inflammation a...

journal_title：Pigment cell & melanoma research

authors： D'Osualdo A,Reed JC

更新日期：2012-01-01 00:00:00

abstract：:Converging lines of evidence from varied scientific disciplines suggest that cutaneous melanomas comprise biologically distinct subtypes that arise through multiple causal pathways. Understanding the respective relationships of each subtype with etiologic factors such as UV radiation and constitutional factors is the ...

journal_title：Pigment cell & melanoma research

authors： Whiteman DC,Pavan WJ,Bastian BC

更新日期：2011-10-01 00:00:00

abstract：:The advent of immune checkpoint blockers and targeted therapies has changed the outcome of melanoma. However, many patients experience relapses, emphasizing the need for predictive and prognostic biomarkers. We developed a strategy based on plasmacytoid dendritic cells (pDCs) loaded with melanoma tumor antigens that a...

journal_title：Pigment cell & melanoma research

authors： Charles J,Chaperot L,Revol B,Baudin M,Mouret S,Hamon A,Leccia MT,Plumas J,Aspord C

更新日期：2018-01-01 00:00:00

abstract：:Melanoma patients with BRAFV600E -mutant tumors display striking responses to BRAF inhibitors (BRAFi); however, almost all invariably relapse with drug-resistant disease. Here, we report that microRNA-125a (miR-125a) expression is upregulated in human melanoma cells and patient tissues upon acquisition of BRAFi resist...

journal_title：Pigment cell & melanoma research

authors： Koetz-Ploch L,Hanniford D,Dolgalev I,Sokolova E,Zhong J,Díaz-Martínez M,Bernstein E,Darvishian F,Flaherty KT,Chapman PB,Tawbi H,Hernando E

更新日期：2017-05-01 00:00:00

abstract：:The Melanoma Research Foundation (MRF) has charted a comprehensive assessment of the current state of melanoma research and care. Intensive discussions among members of the MRF Scientific Advisory Council and Breakthrough Consortium, a group that included clinicians and scientists, focused on four thematic areas - dia...

journal_title：Pigment cell & melanoma research

authors： Merlino G,Herlyn M,Fisher DE,Bastian BC,Flaherty KT,Davies MA,Wargo JA,Curiel-Lewandrowski C,Weber MJ,Leachman SA,Soengas MS,McMahon M,Harbour JW,Swetter SM,Aplin AE,Atkins MB,Bosenberg MW,Dummer R,Gershenwald JE,Ha

更新日期：2016-07-01 00:00:00

abstract：:We investigated the contributions of Tyrp1 and Gpnmb to the iris transillumination defect (TID) in five age cohorts of BXD mice. Using systems genetics, we also evaluated the role of other known pigmentation genes (PGs). Mapping studies indicate that Tyrp1 contributes to the phenotype at all ages, yet the TID maps to ...

journal_title：Pigment cell & melanoma research

authors： Swaminathan S,Lu H,Williams RW,Lu L,Jablonski MM

更新日期：2013-07-01 00:00:00

abstract：:The deubiquitinating enzyme BAP1 is mutated in a hereditary cancer syndrome with a high risk of mesothelioma and melanocytic tumors. Here, we show that Bap1 deletion in melanocytes cooperates with the constitutively active, oncogenic form of BRAF (BRAFV600E ) and UV to cause melanoma in mice, albeit at very low freque...

journal_title：Pigment cell & melanoma research

authors： Webster JD,Pham TH,Wu X,Hughes NW,Li Z,Totpal K,Lee HJ,Calses PC,Chaurushiya MS,Stawiski EW,Modrusan Z,Chang MT,Tran C,Lee WP,Chalasani S,Hung J,Sharma N,Chan S,Hotzel K,Talevich E,Shain A,Xu M,Lill J,Dixit

更新日期：2019-03-01 00:00:00

abstract：:Neuregulin (NRG) signaling through the receptor tyrosine kinase, ERBB3, is required for embryonic development, and dysregulated signaling has been associated with cancer progression. Here, we show that NRG1/ERBB3 signaling inhibits melanocyte (MC) maturation and promotes undifferentiated, migratory and proliferative c...

journal_title：Pigment cell & melanoma research

authors： Buac K,Xu M,Cronin J,Weeraratna AT,Hewitt SM,Pavan WJ

更新日期：2009-12-01 00:00:00

abstract：:The quantification of melanins is a complex task due to the chemical heterogeneity of the pigments and the difficulty of their isolation. The best accepted procedure currently consists in the chemical cleavage of melanins and the subsequent detection of degradation products by HPLC, which implies the destruction of sa...

journal_title：Pigment cell & melanoma research

authors： Galván I,Jorge A,Ito K,Tabuchi K,Solano F,Wakamatsu K

更新日期：2013-11-01 00:00:00

abstract：:Hermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by hypopigmentation, bleeding diathesis, and other symptoms due to multiple defects in lysosome-related organelles. Ten HPS subtypes have been identified with mutations in HPS1 to HPS10. Only four patients with HPS-1 have been reported in Chine...

journal_title：Pigment cell & melanoma research

authors： Wei A,Yuan Y,Bai D,Ma J,Hao Z,Zhang Y,Yu J,Zhou Z,Yang L,Yang X,Li L,Li W

更新日期：2016-11-01 00:00:00